MCID: LCT008
MIFTS: 14

Lactate Dehydrogenase Deficiency

Categories: Muscle diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Lactate Dehydrogenase Deficiency

MalaCards integrated aliases for Lactate Dehydrogenase Deficiency:

Name: Lactate Dehydrogenase Deficiency 20 43 70
Lactate Dehydrogenase Subunit Deficiencies 43
Deficiency of Lactate Dehydrogenase 43
Ldh Deficiency 43

Classifications:



External Ids:

UMLS 70 C0342769

Summaries for Lactate Dehydrogenase Deficiency

MedlinePlus Genetics : 43 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency.People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly.People with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.

MalaCards based summary : Lactate Dehydrogenase Deficiency, also known as lactate dehydrogenase subunit deficiencies, is related to glycogen storage disease due to lactate dehydrogenase deficiency and fanconi-bickel syndrome. An important gene associated with Lactate Dehydrogenase Deficiency is LDHD (Lactate Dehydrogenase D).

GARD : 20 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern.

Wikipedia : 73 Lactate dehydrogenase (LDH or LD) is an enzyme found in nearly all living cells. LDH catalyzes the... more...

Related Diseases for Lactate Dehydrogenase Deficiency

Diseases related to Lactate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease due to lactate dehydrogenase deficiency 11.6
2 fanconi-bickel syndrome 11.4
3 lactate dehydrogenase b deficiency 11.3
4 angina pectoris 10.0
5 myopathy 10.0
6 d-lactic aciduria with gout 9.9
7 myoglobinuria 9.9
8 short bowel syndrome 9.9
9 dental caries 9.9
10 lactic acidosis 9.9
11 annular erythema 9.8

Graphical network of the top 20 diseases related to Lactate Dehydrogenase Deficiency:



Diseases related to Lactate Dehydrogenase Deficiency

Symptoms & Phenotypes for Lactate Dehydrogenase Deficiency

Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Lactate Dehydrogenase Deficiency

Genetic Tests for Lactate Dehydrogenase Deficiency

Anatomical Context for Lactate Dehydrogenase Deficiency

Publications for Lactate Dehydrogenase Deficiency

Articles related to Lactate Dehydrogenase Deficiency:

(show all 15)
# Title Authors PMID Year
1
Identification of human D lactate dehydrogenase deficiency. 61
30931947 2019
2
Aerobic catabolism and respiratory lactate bypass in Ndh-negative Zymomonas mobilis. 61
30591903 2018
3
Exertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydrogenase (LDH) deficiency. 61
29198466 2018
4
Transcriptome, proteome, and metabolite analyses of a lactate dehydrogenase-negative mutant of Enterococcus faecalis V583. 61
21296946 2011
5
A new strategy for the replacement therapy of dental caries. 61
19501474 2009
6
Genetic and physiological analysis of the lethal effect of L-(+)-lactate dehydrogenase deficiency in Streptococcus mutans: complementation by alcohol dehydrogenase from Zymomonas mobilis. 61
8926105 1996
7
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. 61
7944300 1994
8
L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. 61
8113201 1994
9
Evidence that L-(+)-lactate dehydrogenase deficiency is lethal in Streptococcus mutans. 61
8262650 1994
10
Hereditary lactate dehydrogenase A-subunit deficiency as cause of early postimplantation death of homozygotes in Mus musculus. 61
1644279 1992
11
An investigation into the use of restriction endonuclease analysis for the study of transmission of mutans streptococci. 61
2632600 1989
12
Serotype c Streptococcus mutans mutatable to lactate dehydrogenase deficiency. 61
3912415 1985
13
Hemolytic anemias and erythrocyte enzymopathies. 61
2990276 1985
14
[Hereditary H type LDH deficiency. 2. Abnormal glycolytic metabolism in the erythrocyte]. 61
5168059 1971
15
[Hereditary H type LDH deficiency. 1. Electrophoretic characteristics of the body fluid and tissue]. 61
5168058 1971

Variations for Lactate Dehydrogenase Deficiency

Expression for Lactate Dehydrogenase Deficiency

Search GEO for disease gene expression data for Lactate Dehydrogenase Deficiency.

Pathways for Lactate Dehydrogenase Deficiency

GO Terms for Lactate Dehydrogenase Deficiency

Sources for Lactate Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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